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KMT2D c.16474del ;(p.D5492Tfs*17)
Variant ID: 12-49415872-TC-T
NM_003482.3(
KMT2D
):c.16474del;(p.D5492Tfs*17)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
Frontiers In Genetics
Choy, Kwong Wai KW; Wang, Huilin H; Shi, Mengmeng M; Chen, Jingsi J; Yang, Zhenjun Z; Zhang, Rui R; Yan, Huanchen H; Wang, Yanfang Y; Chen, Shaoyun S; Chau, Matthew Hoi Kin MHK; Cao, Ye Y; Chan, Olivia Y M OYM; Kwok, Yvonne K YK; Zhu, Yuanfang Y; Chen, Min M; Leung, Tak Yeung TY; Dong, Zirui Z
Publication Date: 2019
Variant appearance in text: KMT2D: 16474delG; D5492fs
PubMed Link:
31475041
Variant Present in the following documents:
Main text
fgene-10-00761.pdf
View BVdb publication page